LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0033300
Disease: Progeria
Progeria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 1.000 None 0.967 213 34 2003 2020
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 1.000 None 0.989 88 55 1999 2020
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 19 0.920 None 1.000 7 19 2002 2017
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 6 0.900 None 1.000 8 4 1999 2017
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 74 0.800 None 1.000 63 74 1991 2018
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 23 0.800 None 1.000 42 22 2000 2020
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 17 16 0.800 None 1.000 23 13 2002 2018
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 1 4 0.710 None 1.000 5 4 2003 2017
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.700 None 0.963 81 16 2000 2019
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.700 strong 1.000 23 1 1997 2019
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 10 0.700 None 1.000 5 4 2002 2017
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 strong 1.000 4 4 2010 2017
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 3 0.700 None 1.000 3 3 2008 2017
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 16 0.600 limited 0.978 89 12 2000 2020
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.530 None 1.000 6 2 2000 2018
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.520 strong 1.000 3 2012 2015
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.510 None 1.000 7 2003 2009
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.500 None 0.994 163 55 1996 2020
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 63 17 0.460 None 1.000 7 2 1999 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.450 None 0.833 6 2 2008 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.410 None 1.000 17 2 1990 2013
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.410 None 1.000 2 1 2005 2009
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		disease Cardiovascular Diseases Disease or Syndrome 35 26 0.410 None 1.000 1 2 2004 2004
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.400 None 0.938 16 6 1999 2016
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.400 None 1.000 15 4 2003 2020